Article
Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Acta diabetologica - 1 May 2026
Płoszaj Tomasz, Skoczylas Sebastian, Gadzalska Karolina, Gorządek Monika, Jakiel Paulina, Juścińska Ewa, Borowiec Maciej, Mojsak Patrycja, Oto Aleksandra, Ołubiec Adrian, Chobot Agata, Cypryk Katarzyna, Głowińska-Olszewska Barbara, Iwaniszewska Barbara, Jarosz-Chobot Przemysława, Kasznicki Jacek, Kowalska Irina, Mazur Artur, Moczulski Dariusz, Myśliwiec Małgorzata, Nazim Joanna, Robak-Kontna Katarzyna, Skowrońska Bogda, Stawerska Renata, Szadkowska Agnieszka, Urbańska-Kosińska Małgorzata, Walczak Mieczysław, Zmysłowska Agnieszka
Abstract excerpt
Despite years of experience from scientific teams around the world, diagnosing the cause of monogenic diabetes (MD) remains a challenge, mainly due to the proper definition of the patients' phenotype and the multitude of molecular causes. Our goal was to present the results of the efforts to make the molecular diagnosis of patients with suspected MD as precise as possible from the last few years of our Rare...
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